Temporal bone dysplasia in Coffin-Siris syndrome.

We report a child, diagnosed with Coffin-Siris syndrome (CSS), with chronic right otorrhoea. CT and DR-MRI were performed to further investigate, diagnose and determine relevant surgical anatomy. CT temporal bones assessment was performed, and the measurements compared with previously published data for normal temporal bone anatomy. These comparisons highlighted various differences which were not initially expected; it showed that there were multiple inner ear abnormalities in addition to middle ear disease. This case highlights the importance of considering temporal bone abnormalities in all children with CSS or any dysmorphia, when they may require mastoid procedures. Reviewing the management of this case provides relevant learning opportunities for both primary, secondary and tertiary care institutions.

Treatment failure with propranolol for subglottic haemangioma.

The use of propranolol for the treatment of subglottic haemangioma has become hugely popular due to its effectiveness and safety profile. We report a case of 7-month-old boy who presented with stridor and histopathology suggestive of subglottic haemangioma following microlaryngoscopy and bronchoscopy (MLB). However, he did not respond to propranolol treatment. This could be due to an older age of propranolol commencement. In general, early commencement of propranolol is necessary when diagnosis of symptomatic infantile haemangioma is made to achieve maximal improvement in symptoms and prevent further proliferation. There should be a high index of suspicion for subglottic haemangioma in children presenting with chronic biphasic stridor, with early MLB and diagnosis. This will allow early treatment, giving the best chance to avoid our situation.

Spontaneous closure of branchial sinus of the pyriform fossa.

Management of third and fourth branchial cleft anomalies are similar. These anomalies should be suspected in a child with recurrent low-anterior neck abscess. Investigations in the form of cross-sectional studies and examination of the pharynx under anaesthesia will facilitate diagnosis and resolution of abscess. Spontaneous closure of the pyriform sinus can occur following conservative management with antibiotic treatment and abscess drainage. This emphasise the role of second-look prior to implementing endoscopic cauterisation or surgery.

Paediatric nasal polyps in cystic fibrosis.

Patients with cystic fibrosis (CF) are at increased risk of nasal polyps. We present the case of a 17-month-old Caucasian patient with CF who presented with hypertelorism causing cycloplegic astigmatism, right-sided mucoid discharge, snoring and noisy breathing. Imaging suggested bilateral mucoceles in the ethmoid sinuses. Intraoperatively, bilateral soft tissue masses were noted, and both posterior choanae were patent. Polypectomy and bilateral mega-antrostomies were performed. Histological examination revealed inflammatory nasal polyposis typical of CF. The role of early functional endoscopic sinus surgery (FESS) in children with CF nasal polyposis remains questionable as the recurrence rate is higher, and no improvement in pulmonary function has been shown. Our case, however, clearly demonstrates the beneficial upper airway symptom relief and normalisation of facial appearance following FESS in a child with this condition.

Tympanic membrane retraction: An endoscopic evaluation of staging systems.

OBJECTIVES/HYPOTHESIS: The objectives of this work were to assess inter- and intraobserver variability of different staging systems for tympanic membrane (TM) retraction using otoendoscopy in children at risk of retraction from cleft palate, to compare hearing level with stage of retraction, and to propose optimum characteristics for monitoring TM retraction with endoscopy. STUDY DESIGN: Cross-sectional study. METHODS: Endoscopic images of 245 TMs of children with cleft palate (mean age, 13.0 years) were assessed on two separate occasions by six observers using the Sade and Erasmus staging systems for pars tensa retraction and Tos system for pars flaccida retraction. Intra- and interobserver agreements were calculated. Extent of TM retraction was compared with hearing threshold. TMs with middle ear effusion, tympanostomy tubes, or perforation were excluded. RESULTS: A total of 108 ear drums (44%) were rated as having pars tensa and/or flaccida retraction. Intraobserver agreement was fair to moderate (kappa = 0.3-0.37, P < .001) for the different staging systems and interobserver agreement slight to moderate (0.18-0.41 P < .001). Conductive hearing loss (four-tone average air-bone gap >25 dB HL) was present in 11 ears (15%). No correlation between hearing threshold and retraction stage was found. Isolated tensa retraction onto the promontory increased hearing threshold more than retraction involving the incus (P = .02; analysis of variance). CONCLUSIONS: Endoscopic image capture may provide a clear objective record of TM retraction, but current staging systems have unsatisfactory reliability when applied to such images, and retraction stage correlates poorly with hearing threshold. Modification of retraction assessment to improve validity and clinical relevance is proposed.

Intraoperative use of cone-beam computed tomography in a cadaveric ossified cochlea model.

OBJECTIVES: To describe a cadaveric temporal bone model of labyrinthitis ossificans and investigate the utility of intraoperative cone-beam computed tomography (CBCT) in the facilitating cochlear implantation. DESIGN: Cadaveric temporal bone study. METHODS: Five cadaveric heads had cement introduced into the 10 cochleas. CBCT and a conventional CT scan were compared to assess the extent of cochlear obliteration. The cement was drilled-out (under CBCT guidance, if required) and cochlear implant electrode arrays (from 3 different manufacturers) inserted. RESULTS: CBCT images demonstrated temporal bone anatomy and the extent of cochlear obliteration as clearly as conventional CT in all cases. Intraoperative CBCT guided drilling and facilitated electrode placement in two of five heads (3 of 10 ears). Streak-artifact from the electrodes of two devices partially obscured image clarity. CONCLUSIONS: The obliterated cochlear model reproduced a disease-ossified cochlear both radiographically and surgically. CBCT is useful for intraoperative imaging to facilitate electrode array placement in the obliterated or congenitally abnormal cochlea.

Radiological features of ingested metallic mesh earphone pieces.

Foreign body ingestion remains a frequent cause of morbidity in infants and children. Symptoms vary with size, shape, location and composition of the foreign body. Flat objects tend to rotate to the greatest diameter of the esophageal lumen and become oriented in the coronal plane. We report two cases of ingested metallic mesh earphone pieces found in the upper esophagus. The foreign bodies were difficult to identify on posteroanterior images, but were more easily visualized on the lateral images. The presentation of this clinical entity and the recognition of its distinctive radiological findings may prevent a delayed diagnosis in the future and avoid potential complications.

Cochleovestibular anomalies in children with cholesteatoma.

OBJECTIVE: To describe the cochleovestibular apparatus on computed tomography (CT) imaging in patients with cholesteatoma. We asked whether cochleovestibular anomalies coexist in individuals with cholesteatoma. STUDY DESIGN: Randomized, controlled, prospective measurement. METHODS: A database search yielded 145 children with cholesteatoma: 31 met inclusion criteria by not having sensorineural hearing loss, not having an associated syndrome, and having digitally stored temporal bone CT imaging available. Prospective measurement of 31 individuals (62 ears) with unilateral cholesteatoma and 32 normally hearing nonsyndromic controls (64 ears) was performed by a neuroradiologist blinded to the study objective. Twenty-six temporal bone aspects on axial imaging were evaluated (16 measurement, 10 calculated from measurement). RESULTS: The cholesteatoma group had a larger endolymphatic fossa and vestibular aqueduct, and there was a trend for the lateral semicircular canal vestibule to be smaller as compared with controls. Subgroup analysis revealed a gradient in prevalence of these findings being most common in the congenital cholesteatoma group, intermediate in the acquired cholesteatoma group, and least common in controls. There were no differences in measurements between ears with cholesteatoma and contralateral disease-free temporal bones. CONCLUSIONS: Children with cholesteatoma have abnormal vestibular anatomy. The gradient in prevalence of these findings may suggest a relationship between congenital and acquired cholesteatoma. These may include a generalized temporal bone anomaly that predisposes to cholesteatoma formation, or a third variable such as genetic mutation may predispose to both anomalous cochleovestibular formation and cholesteatoma.

Speech perception outcome in multiply disabled children following cochlear implantation: investigating a predictive score.

BACKGROUND: Children with multiple disabilities account for a small percentage of implantees in a cochlear implant program, but they remain the most challenging group for which to predict benefit from the implant and for cooperation with habilitation postoperatively. PURPOSE: To assess the relationship of pre-implant functional disabilities with postoperative speech perception scores and determine the feasibility of predicting outcome with a cochlear implant in a multiply disabled pediatric population. RESEARCH DESIGN: Retrospective cohort study. STUDY SAMPLE: Sixty-six children with a cochlear implant and at least one additional disability. DATA COLLECTION AND ANALYSIS: We retrospectively examined the relationship between pre-implant Graded Profile Analysis (GPA) scores and postimplant speech perception scores. A pre-implant functional disability score (based on the Battelle developmental screen) was applied to the same cohort of patients and its association with postimplant speech perception scores was examined. RESULTS: The functional disability score significantly predicted high (k > 24) and low (k < 7) speech perception scores (p < 0.001 and p < .0001) and had excellent discrimination ability (c statistic = 0.88 and 0.93 respectively). The GPA score was not significantly associated with speech perception scores (p = 0.519 and p = 0.146) and demonstrated no ability to discriminate postimplant speech perception scores in this implant population (c statistic = 0.49 and c = 0.57). CONCLUSIONS: Prediction of outcomes following cochlear implantation in multiply disabled children can be facilitated using this newly developed functional disability score as an adjunct to traditional candidacy assessments.

Behavioral phenotypes of Disc1 missense mutations in mice.

To support the role of DISC1 in human psychiatric disorders, we identified and analyzed two independently derived ENU-induced mutations in Exon 2 of mouse Disc1. Mice with mutation Q31L showed depressive-like behavior with deficits in the forced swim test and other measures that were reversed by the antidepressant bupropion, but not by rolipram, a phosphodiesterase-4 (PDE4) inhibitor. In contrast, L100P mutant mice exhibited schizophrenic-like behavior, with profound deficits in prepulse inhibition and latent inhibition that were reversed by antipsychotic treatment. Both mutant DISC1 proteins exhibited reduced binding to the known DISC1 binding partner PDE4B. Q31L mutants had lower PDE4B activity, consistent with their resistance to rolipram, suggesting decreased PDE4 activity as a contributory factor in depression. This study demonstrates that Disc1 missense mutations in mice give rise to phenotypes related to depression and schizophrenia, thus supporting the role of DISC1 in major mental illness.

Computed tomography and/or magnetic resonance imaging before pediatric cochlear implantation? Developing an investigative strategy.

OBJECTIVE: To investigate and compare the usefulness of preoperative magnetic resonance (MR) imaging and high-resolution temporal bone computed tomography (HRCT) in pediatric cochlear implant candidates. STUDY DESIGN: Prospective. SETTING: Tertiary referral center. PATIENTS: A cohort of 92 pediatric patients with profound hearing. Inclusion criteria were MR, computed tomography, and cochlear implantation. INTERVENTION. DIAGNOSTIC: All patients had preoperative imaging of the petrous temporal bone (HRCT, T2-weighted fast spin echo, axial 3D Fast Imaging Employing Steady-state Acquisition [FIESTA] MR) and brain (Fast Fluid-attenuated Inversion-recovery [FLAIR] MR). MAIN OUTCOME MEASURE(S): Overall prevalence of inner ear dysplasias in this population and comparison of detection rates between HRCT, T2 Fast Spin Echo (FSE), and FIESTA MR sequences. RESULTS: Radiological abnormalities were observed in 32 and 59% of MR and HRCT temporal bone, respectively. Synchronous intracranial findings were noted in 40% on brain MR. Common vestibulocochlear nerve was observed in 3% ears and directed side of implantation. Consistent discrepancies noted on HRCT were inability to diagnose early obliterative labyrinthitis and presence of the cochlear nerve in the internal auditory canal. With respect to MR, enlarged vestibular aqueducts and narrow cochlear nerve canals were consistently under identified. CONCLUSION: Dual-modality imaging with HRCT and MR of petrous bone and MR brain in the precochlear implant pediatric population detects abnormalities related to deafness, which would not otherwise be found using either modality alone. There is overlap between the imaging modalities in the type of abnormalities detected, and we present a case for selective use of HRCT within a diagnostic algorithm, using the patient risk factors we have identified.